A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734114



Internal ID9968440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21547903..21548755hg38UCSC Ensembl
Outerchr7:21587521..21588373hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890379, essv6818478, essv6822640, essv6799094, essv6671446, essv6964097, essv6968373
SamplesSSM027, SSM079, SSM097, SSM031, SSM001, SSM072, SSM078
Known GenesDNAH11
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2734114
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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